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Article

Detection of heterozygous mutation in hook microtubule-tethering protein 1 in three patients with decapitated and decaudated spermatozoa syndrome.

Journal of medical genetics - 1 Mar 2018

Chen Huixing, Zhu Yong, Zhu Zijue, Zhi Erlei, Lu Keming, Wang Xiaobo, Liu Feng, Li Zheng, Xia Weiliang

Abstract excerpt

BACKGROUND: The mechanism of intramanchette transport is crucial to the transformation of sperm tail and the nuclear condensation during spermiogenesis. Although few dysfunctional proteins could result in abnormal junction between the head and tail of spermatozoon, little is known about the genetic cues in this process. OBJECTIVE: Based on patients with severe decapitated and decaudated spermatozoa (DDS)...

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Source

Identifiers

PMID: 29330334
DOI: 10.1136/jmedgenet-2016-104404

Genes

HOOK1

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